3billion
back to listBack to List

COLQ

collagen like tail subunit of asymmetric acetylcholinesterase

HCNC Approved Symbol
COLQ (HGNC:2226)
Genomic Coordinates
3:15,450,133 - 15,521,706 (3p25.1)
Synonyms
EAD
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the COLQ gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Scoliosis
 3 (75.0%)
Areflexia
 2 (50.0%)
Clumsiness
 2 (50.0%)
Emg: myopathy
 2 (50.0%)
Fatigue
 2 (50.0%)
COLQ - Gene browser | 3billion